Literature DB >> 2857895

Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia.

E Holme, B Lindblad, S Lindstedt.   

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Year:  1985        PMID: 2857895     DOI: 10.1016/s0140-6736(85)92132-4

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  5 in total

1.  Liver transplantation in two children with tyrosinaemia type I: biochemical aspects.

Authors:  E Riudor; A Ribes; J Lloret; J Friden; E Holme; C Jakobs; V Martinez Ibanez
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material.

Authors:  E A Kvittingen; P P Guibaud; P Divry; G Mandon; M O Rolland; Y Domenichini; C Jakobs; E Christensen
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

3.  Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

Authors:  R M Tanguay; J P Valet; A Lescault; J L Duband; C Laberge; F Lettre; M Plante
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

4.  Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.

Authors:  C Laberge; A Grenier; J P Valet; J Morissette
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

5.  Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

Authors:  D Phaneuf; Y Labelle; D Bérubé; K Arden; W Cavenee; R Gagné; R M Tanguay
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

  5 in total

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